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Haplotypes of 20 Y-chromosomal STRs in a population sample from southeast China (Chaoshan area)

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Abstract

In this study, 20 Y-specific short tandem repeat (STR) loci (DYS434, Y-GATA-A10, Y-GATA-H4, DYS438, DYS439, DYS443, DYS444, DYS446, DYS447, DYS448, DYS456, DYS458, DYS460, DYS520, DYS531, DYS557, DYS622, DYS630, DYS635(Y-GATA-C4), and DYS709) were analyzed in 158 unrelated healthy men from southeast China by three fluorescence-labeled multiplex polymerase chain reaction systems. The Y-STR multiplexes developed have followed the published nomenclature and International Society for Forensic Genetics (ISFG) guidelines for STR analysis. Gene diversity ranged from 0.2506 at DYS434 to 0.8034 at DYS447. A total of 157 different haplotypes were observed, and among these, 156 were unique, while 1 was found two times. The haplotype diversity value calculated from all 20 loci combined was 0.9997, which is informative. Furthermore, 80 father–son pairs, previously confirmed by autosomal STR analysis, were typed using the same 20 Y-STR loci, and four mutation events were identified at the Y-GATA-H4, DYS439, DYS456, and DYS458 loci, giving an average mutation rate of 0.25% per locus per generation (95% confidence interval 0.09–0.54). These results including the haplotype data at 20 Y-STR loci would enrich Chinese genetic informational resources and provide useful information in forensic practice.

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Acknowledgements

We would like to thank Ms You-Hua Tu for collecting DNA samples during the course of this work. Special thanks go to volunteers for providing DNA samples. This study was supported by China Postdoctoral Science Foundation (2005038506), the National Natural Science Foundation of Guangdong Province (no. D6301091), and Li Ka Shing Foundation, Hong Kong.

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Authors and Affiliations

  1. Department of Forensic Medicine, Shantou University Medical College, Shantou, 515031, Guangdong, People’s Republic of China

    Mei Sen Shi, Ru Feng Bai, Xiao Jun Yu, Jun Yao Lv & Bo Hu

  2. Institute of Evidence Law and Forensic Science, China University of Political Science and Law, 100088, Beijing, People’s Republic of China

    Mei Sen Shi & Ru Feng Bai

  3. Department of Forensic Medicine, Guangdong Medical College, Dongguan, 523808, Guangdong, People’s Republic of China

    Jian Pin Tang

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  1. Mei Sen Shi
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Correspondence to Mei Sen Shi.

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Table S1

Information on the 20 Y-STR loci examined in this study (DOC 50 KB)

Table S2

Sequence structures and nomenclatures of DYS448, Y-GATA-A10, DYS531, DYS557, DYS622, DYS630, and DYS709 alleles (DOC 54 KB)

Table S3

A list of haplotypes at 20 Y- STR loci in the southeast China population (n = 158) (DOC 242 KB)

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Shi, M.S., Tang, J.P., Bai, R.F. et al. Haplotypes of 20 Y-chromosomal STRs in a population sample from southeast China (Chaoshan area). Int J Legal Med 121, 455–462 (2007). https://doi.org/10.1007/s00414-007-0186-2

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  • DOI: https://doi.org/10.1007/s00414-007-0186-2

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